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familial juvenile hypertrophy of the breast - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial juvenile hypertrophy of the breast

MONDO:0007237

Also known as:familial juvenile gigantomastiajuvenile gigantomastiajuvenile macromastia

Overview

Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal.

Clinical Presentation

Features include: Abnormal thorax morphology.

Explore clinical features

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial juvenile hypertrophy of the breast.

15 publications have been identified in PubMed for familial juvenile hypertrophy of the breast. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (40%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Patient case studies	8	53%

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:113670

Orphanet

European rare disease database

Orphanet:180176

GARD

Genetic and Rare Diseases Info Center

GARD:9450

Questions for Your Care Team

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familial juvenile hypertrophy of the breast

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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